The Week in Genomics 17-21 August 2015
In a week where the Mars Rover succumbed further to selfie culture, and a politician’s barely-there-beard almost broke twitter, here is our pick of the week in genomics.
Illumina announced this week the launch of Helix, their own consumer genome sequencing company that, as well as access to their own genetic data, will give individuals access to a range of genomic services from a range of third party organisations. So far the Mayo Clinic are on board to provide health advice, while Laboratory Corporation of America will focus on medically actionable genetic conditions.
MIT Tech Review spoke to the founder of Synthorx, Floyd Romesberg, about his work creating synthetic life that carries two additional base pairs in it’s genome, and how these ‘expanded genome’ life forms could be used to create new drugs.
A UK study, funded by Diabetes UK and the Wellcome Trust, has reported that in the last 10 years improvements in post-natal genetic testing for diabetes have completely changed how clinicians diagnose and treat the disease. Now a baby diagnosed with diabetes can be tested for all of 22 possible causes within days, rather than months, and getting a genetic diagnosis early allows doctors to make vital decisions about how best to treat and manage the condition.
GWAS studies have had a massive impact on how we understand the genetics of disease. Last month we learned that the onset of Huntington’s disease may be regulated by a specific gene region, and this week scientists from Northwester University published a GWAS of their own showing gene regions associated with Polycystic Ovary syndrome.
Last year’s ALS Ice Bucket Challenge has raised a lot of money for a lot of great research. After the news that the University of Massachusetts received a $1 million grant to sequence ALS patient genomes, this week Biogen and Columbia University announced a collaboration to map genes to clinical traits in 1,500 ALS patients, funded in part by $3.5 million from the ALS Assocation.
“The expectation is we’ll be able to find genes involved in phenotypes other than the presence or absence of the diseases, affecting things like how fast the onset was, or how quickly it progresses,” said Tim Harris, Biogen’s senior vice president of precision medicine. “Phenotypes refer to patients’ physical characteristics, everything from eye color to how they experience the symptoms of a disease. Phenotypes may be driven by genetics”
Scientist from MIT identify a ‘master gene’ that regulates energy release from fat cells. Changing the gene in mice caused them to loose weight by converting fat storing cells into fat burning cells, raising the possibility of a gene therapy for obesity.